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Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol
- Source :
- The Journal of pediatrics 176 (2016): 142–149. doi:10.1016/j.jpeds.2016.05.038, info:cnr-pdr/source/autori:Mussa, Alessandro; Molinatto, Cristina; Baldassarre, Giuseppina; Riberi, Evelise; Russo, Silvia; Larizza, Lidia; Riccio, Andrea; Ferrero, Giovanni Battista/titolo:Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol/doi:10.1016%2Fj.jpeds.2016.05.038/rivista:The Journal of pediatrics/anno:2016/pagina_da:142/pagina_a:149/intervallo_pagine:142–149/volume:176
- Publication Year :
- 2016
- Publisher :
- Elsevier BV, 2016.
-
Abstract
- Objective To compare tumor risk in the 4 Beckwith-Wiedemann syndrome (BWS) molecular subgroups: Imprinting Control Region 1 Gain of Methylation (ICR1-GoM), Imprinting Control Region 2 Loss of Methylation (ICR2-LoM), Chromosome 11p15 Paternal Uniparental Disomy (UPD), and Cyclin-Dependent Kinase Inhibitor 1C gene ( CDKN1C ) mutation. Study design Studies on BWS and tumor development published between 2000 and 2015 providing (epi)genotype-cancer correlations with histotype data were reviewed and meta-analysed with cancer histotypes as measured outcome and (epi)genotype as exposure. Results A total of 1370 patients with BWS were included: 102 developed neoplasms (7.4%). Tumor prevalence was 2.5% in ICR2-LoM, 13.8% in UPD, 22.8% in ICR1-GoM, and 8.6% in patients with CDKN1C mutations. Cancer ORs were 12.8 in ICR1-GoM, 6.5 in UPD, and 2.9 in patients with CDKN1C mutations compared with patients with ICR2-LoM. Wilms tumor was associated with ICR1-GoM (OR 68.3) and UPD (OR 13.2). UPD also was associated with hepatoblastoma (OR 5.2) and adrenal carcinoma (OR 7.0), and CDKN1C mutations with neuroblastic tumors (OR 7.2). Conclusion Cancer screening in BWS could be differentiated on the basis of (epi)genotype and target specific histotypes. Patients with ICR1-GoM and UPD should undergo renal ultrasonography scanning, given their risk of Wilms tumor. Alpha feto protein monitoring for heptaoblastoma is suggested in patients with UPD. Adrenal carcinoma may deserve screening in patients with UPD. Patients with CDKN1C mutations may deserve neuroblastoma screening based on urinary markers and ultrasonography scanning. Finally, screening appears questionable in cases of ICR2-LoM, given low tumor risk.
- Subjects :
- 0301 basic medicine
Oncology
congenital, hereditary, and neonatal diseases and abnormalities
Hepatoblastoma
medicine.medical_specialty
Pathology
Beckwith-Wiedemann Syndrome
Genotype
Beckwith–Wiedemann syndrome
meta-analysi
03 medical and health sciences
0302 clinical medicine
Clinical Protocols
Risk Factors
Neoplasms
Internal medicine
Cancer screening
medicine
Humans
tumor screening
Child
Beckwith-Wiedemann
meta-analysis
molecular group and tumor risk
oncological surveillance
business.industry
Wilms' tumor
medicine.disease
Neuroblastic Tumor
030104 developmental biology
030220 oncology & carcinogenesis
Meta-analysis
Pediatrics, Perinatology and Child Health
business
Alpha-fetoprotein
Systematic Reviews as Topic
Subjects
Details
- ISSN :
- 00223476
- Volume :
- 176
- Database :
- OpenAIRE
- Journal :
- The Journal of Pediatrics
- Accession number :
- edsair.doi.dedup.....e429ce96ce79a6059db736806b4bf0dd